S53S (p.Ser53Ser) variant of UBQLN2 (Ubiquilin-2)
S53S (p.Ser53Ser) in UBQLN2 (Ubiquilin-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S53S (p.Ser53Ser) variant details
- p.Ser53Ser
- rs772580178
- gnomAD X-56564032-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.143
- CADD 8.78
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available